Canonical Allele Identifier: CA732115500
Gene:

Linked Data

dbSNP Id: rs1307483450
MyVariant Identifiers: chr1:g.224256409T>C (hg19) chr1:g.224068707T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.224068707T>C , CM000663.2:g.224068707T>C GRCh38
NC_000001.10:g.224256409T>C , CM000663.1:g.224256409T>C GRCh37
NC_000001.9:g.222323032T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949173.1:n.385+1053T>C
XR_001737824.1:n.242+1053T>C
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